Phenotype #0000171841

Individual ID 00227835
Associated disease DFNB
Diagnosis/Initial deafness, autosomal recessive, type 82 (DFNB-82)
Diagnosis/Definite -
Phenotype details severe/profound hearing loss; no hearing aid; no motor delay; no communicative delay; no cognitive impairment; no ventriculomegaly; corpus callosum short and thin; heterotopia moderate; frontal polymicrogyria moderate; cerebellar dysplasia; moderate interhemispheric cyst
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Jacopo Celli
Date created 2010-08-16 11:43:49 +02:00 (CEST)
Date last edited 2019-03-12 17:52:18 +01:00 (CET)

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